ArticleHuman pathology2019
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Article in Human pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Novel, emerging and provisional renal entities: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas.Endocrine pathology · 2026Observational
- Clinicopathological and molecular features of so-called low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma: a study of 5 cases.Virchows Archiv : an international journal of pathology · 2025Article
- Keratin 20 positive SDH-deficient renal cell carcinoma: a case report and literature review.Diagnostic pathology · 2024Review
- [Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: Clinicopathological Analysis of 11 Cases].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Article
- Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.Cancer prevention research (Philadelphia, Pa.) · 2024Article
- Case report: A rare low-grade fumarate hydratase-deficient renal cell carcinoma.Frontiers in oncology · 2024Article
- Fumarate hydratase-deficient renal cell carcinoma complicated with liver metastasis: case report.Frontiers in surgery · 2024Article
- Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.Human molecular genetics · 2023Article
- Succinate Dehydrogenase Defects Giant Renal Cell Carcinoma.Urologia internationalis · 2023Article
- Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.Cancer · 2022Article
- Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.European urology oncology · 2021Article
- Article
- SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.Clinical case reports · 2021Article
- Article
- [Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
- Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Secondary renal neoplasia following chemotherapy or radiation in pediatric patients.Human pathology · 2020Article
- Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.Molecular genetics & genomic medicine · 2020Article
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Abstract
Mutations of the succinate dehydrogenase (SDHX) enzyme subunits commonly lead to a loss of function of the holoenzyme complex, and germline SDHX mutations lead to a genetic predisposition to SDH-deficient neoplasms, including renal cell carcinomas (RCC). Similarly, loss-of-function alterations of fumarate hydratase (FH) leads to a genetic predisposition to hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated RCC. Loss of FH leads to an accumulation of fumarate and aberrantly high levels of S-(2-succino)-cysteine (2SC). Subtype-specific consecutively diagnosed renal cell neoplasms were selected for the study and cases were not otherwise selected based on clinicopathologic features. Tissue microarrays were constructed from 1009 renal cell neoplasms (papillary: 400, clear cell: 203, chromophobe: 87, oncocytomas [original diagnosis]: 273, unclassified: 46) and these cases were immunostained for SDHA/SDHB to screen for SDH loss. A smaller subset (n = 730; oncocytomas, papillary and unclassified RCCs) were screened for FH-deficiency using immunohistochemistry for FH/2SC. Loss of SDHA/SDHB was seen in three of 273 tumors originally diagnosed as oncocytomas (1.1%). Diffuse nuclear and cytoplasmic 2SC staining, with retained FH expression was seen in one case (suggestive of dysfunctional FH protein), while absent FH was seen in 3 cases (2/400 papillary RCCs, 0.5% and 2/46 unclassified RCCs, 4.35%). No aberrant FH/2SC expression was noted in 273 cases originally diagnosed as oncocytomas. SDH-deficient RCCs were identified only in the cases originally diagnosed as oncocytomas (1.1%), while FH-deficient RCCs were identified in the papillary (0.5%) and unclassified RCC cohorts (4.35%). These results can help guide immunohistochemistry-based screening strategies for these tumors.
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